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Wiley, Human Mutation: Variation, Informatics and Disease, 12(41), p. 2094-2104, 2020

DOI: 10.1002/humu.24118

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Phenotypic Expansion in KIF1A ‐related Dominant Disorders: A Description of Novel Variants and Review of Published Cases

Journal article published in 2020 by Ximena Montenegro‐Garreaud, Tadahiro Mitani, Hua Shen, Davut Pehlivan, Qingchang Meng, Jill A. Rosenfeld, Suneeta Madan‐Khetarpal, Daryl A. Scott ORCID, Milana Trubnykova, Donna M. Muzny, Jennifer E. Posey ORCID, Pengfei Liu, James R. Lupski ORCID, Adam W. Hansen ORCID, Michael M. Khayat ORCID and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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